V48M (p.Val48Met) variant of CD3D (P04234)
V48M (p.Val48Met) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- ExAC rs781625373
- TOPMed rs781625373
- gnomAD rs781625373
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.34
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available